(Q35593347)

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Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

scientific article published on 25 January 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

9 August 2017

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study (English)

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Europe PubMed Central

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9 August 2017

Alfonso Valencia

11

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Europe PubMed Central

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9 August 2017

Benjamín Rodríguez-Santiago

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Benjamín Rodríguez-Santiago

2

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object named as

Daniel Rico

6

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David G. Pisano

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David G Pisano

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Francisco X Real

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Francisco X Real

12

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Stephen Chanock

13

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Stephen J Chanock

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9 August 2017

Nathaniel Rothman

5

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Nathaniel Rothman

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9 August 2017

Manolis Kogevinas

9

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Manolis Kogevinas

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9 August 2017

Debra T. Silverman

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Debra T Silverman

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9 August 2017

Montserrat García-Closas

3

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Montserrat García Closas

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9 August 2017

1

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Gaëlle Marenne

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9 August 2017

15

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Núria Malats

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9 August 2017

Luis A Perez-Jurado

4

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Luis Pérez-Jurado

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9 August 2017

author name string

Guillermo Pita

7

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9 August 2017

Emmanuelle Génin

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9 August 2017

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25 January 2011

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9 August 2017

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9 August 2017

32

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9 August 2017

2

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Europe PubMed Central

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9 August 2017

240-248

1 reference

Europe PubMed Central

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9 August 2017

The pitfalls of platform comparison: DNA copy number array technologies assessed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Comparing CNV detection methods for SNP arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

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Accounting for uncertainty when assessing association between copy number and disease: a latent class model

1 reference

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

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27 July 2018

CNV discovery using SNP genotyping arrays.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer

1 reference

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Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

1 reference

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A genome-wide investigation of SNPs and CNVs in schizophrenia

1 reference

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27 July 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

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Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis

1 reference

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27 July 2018

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

1 reference

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27 July 2018

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

1 reference

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Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

1 reference

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Large recurrent microdeletions associated with schizophrenia

1 reference

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27 July 2018

Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population

1 reference

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Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

1 reference

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Mapping and sequencing of structural variation from eight human genomes

1 reference

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27 July 2018

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

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27 July 2018

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

1 reference

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27 July 2018

Structural genomic variation in ischemic stroke

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Association between microdeletion and microduplication at 16p11.2 and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Copy-number variation and association studies of human disease

1 reference

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27 July 2018

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome

1 reference

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27 July 2018

Relative impact of nucleotide and copy number variation on gene expression phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

27 July 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230937

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

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Structural variation in the human genome

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NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses

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Circular binary segmentation for the analysis of array-based DNA copy number data

1 reference

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Detection of large-scale variation in the human genome

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A robust statistical method for case-control association testing with copy number variation

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Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

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21 January 2018

Origins and functional impact of copy number variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21398

21 January 2018

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21398

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Copy number variation at 1q21.1 associated with neuroblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21398

21 January 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21398

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On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

1 reference

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1 reference

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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

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Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

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Strong association of de novo copy number mutations with sporadic schizophrenia

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1 reference

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12 December 2020

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10.1002/HUMU.21398

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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PMC publication ID

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Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

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9 August 2017

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